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- Title
Next-Generation Sequencing in the Diagnosis of Metastatic Lesions: Reclassification of a Glioblastoma as an Endometrial Cancer Metastasis to the Brain.
- Authors
LEUNG, SHUK ON ANNIE; FOLEY, OLIVIA; CHAPEL, DAVID; DA SILVA, ANNACAROLINA; NUCCI, MARISA; MUTO, MICHAEL G.; CAMPOS, SUSANA
- Abstract
Endometrial cancer is the most common gynecologic cancer in the U.S., but metastasis to the brain is rare, and diagnosis can be challenging. Traditional tools for determining if a tumor is a primary or metastatic lesion include pan-imaging, histopathologic studies, and immunohistochemistry. Molecular testing with next-generation sequencing has been increasingly used to augment these tests. We present a case of a patient who initially presented with a brain lesion diagnosed as glioblastoma on histology and immunohistochemistry, but whose diagnosis was later changed to metastasis from an endometrial primary based onmolecular findings. The two tumors shared a common microsatellite instability signature and 51 DNA variants, including oncogenic driver mutations KRAS p.G13D, PIK3CA p.E545A, and PTEN p.I135V and p.K267Rfs*9. This highlights the power of molecular analysis in making the diagnosis in cases of rare metastases.
- Subjects
BRAIN tumor genetics; BRAIN tumor diagnosis; SEQUENCE analysis; GENETIC mutation; MOLECULAR diagnosis; IMMUNOHISTOCHEMISTRY; METASTASIS; GLIOMAS; DIFFERENTIAL diagnosis; ENDOMETRIAL tumors; RARE diseases
- Publication
Oncologist, 2021, Vol 26, Issue 12, pe2102
- ISSN
1083-7159
- Publication type
Article
- DOI
10.1002/onco.13927